ABCA5

ABCA5 is a gene that encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The ABC transporters are a group of transmembrane proteins that utilize the energy from ATP hydrolysis to carry out certain biological processes including translocation of various substrates across membranes and non-transport related processes such as translation of RNA and DNA repair.

Function

The ABCA5 gene is involved in lipid transport. It is expressed in many tissues and has been detected in macrophages located in atherosclerotic lesions, suggesting that it may play a role in pathogenesis of atherosclerosis.

Clinical significance

Mutations in the ABCA5 gene have been associated with Tangier disease, a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL), the "good" cholesterol, in the blood.

Structure

The ABCA5 protein is a large protein with a molecular mass of approximately 170 kDa. It is composed of two homologous halves, each containing a transmembrane domain and a nucleotide binding domain.

See also

• ATP-binding cassette transporter
• Tangier disease
• High-density lipoprotein

References

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